Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228447 | SCV001400847 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This nonsense change has been reported in the literature in individuals with a personal and/or family history breast and ovarian cancer (PMID: 16287141, 29446198). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1007*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |